Three Cases of Adrenoleukodystrophy.
- Author:
Sang Cheol PARK
1
;
Chun Sik KIM
;
Keun Ho CHUNG
;
Phil Za CHO
;
Ji Hoon JANG
;
Jae Hyeon PARK
;
Hea Soo KOO
Author Information
1. Department of Neurology, National Medical Center, Korea.
- Publication Type:Original Article
- MeSH:
Adrenal Insufficiency;
Adrenoleukodystrophy*;
Biopsy;
Brain;
Child;
Humans;
Male;
Metabolism;
Paresis;
Peripheral Nerves;
Plasma;
Seizures;
Sural Nerve
- From:Journal of the Korean Neurological Association
1995;13(3):657-664
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Adrenoleukodystrophy is an inborn error of metabolism characterized by adrenal insufficiency and progressive demyelmation of brain white matter and peripheral nerves. Authors experienced three cases of adrenoleukodystrophy in a 7 year old boy, a 17 and a 210 year old males that were diagnosed by increased plasma content of very long chain fatty acid(VLCFA). The clinical symptoms include seizure, visual impairment, and hemiparesis. Two cases showed typical radiological findings and sural nerve biopsy was performed in one.
